Incidental Mutation 'R3715:Stox2'
ID |
259853 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stox2
|
Ensembl Gene |
ENSMUSG00000038143 |
Gene Name |
storkhead box 2 |
Synonyms |
4933409N07Rik |
MMRRC Submission |
040708-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R3715 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
47633083-47866943 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47866187 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 52
(I52F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000211882]
|
AlphaFold |
Q499E5 |
Predicted Effect |
unknown
Transcript: ENSMUST00000074466
AA Change: D8E
|
SMART Domains |
Protein: ENSMUSP00000074064 Gene: ENSMUSG00000060559 AA Change: D8E
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
low complexity region
|
110 |
128 |
N/A |
INTRINSIC |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181417
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211882
AA Change: I52F
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.0824 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
98% (52/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
T |
C |
16: 88,424,081 (GRCm39) |
M137V |
probably benign |
Het |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Aaas |
T |
C |
15: 102,248,771 (GRCm39) |
I236V |
probably benign |
Het |
Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 86,135,213 (GRCm39) |
I246N |
probably benign |
Het |
Ak9 |
A |
G |
10: 41,233,508 (GRCm39) |
D582G |
probably damaging |
Het |
Aqr |
A |
G |
2: 113,949,150 (GRCm39) |
|
probably benign |
Het |
Bmal2 |
A |
G |
6: 146,724,187 (GRCm39) |
K360E |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 29,068,880 (GRCm39) |
I282M |
probably damaging |
Het |
Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
Dexi |
A |
T |
16: 10,360,553 (GRCm39) |
M1K |
probably null |
Het |
Dlat |
A |
G |
9: 50,549,354 (GRCm39) |
V510A |
probably damaging |
Het |
Eaf1 |
T |
C |
14: 31,224,402 (GRCm39) |
I173T |
possibly damaging |
Het |
Elavl3 |
G |
T |
9: 21,929,895 (GRCm39) |
D336E |
probably benign |
Het |
Epm2a |
A |
G |
10: 11,219,420 (GRCm39) |
Y69C |
probably benign |
Het |
Fam168a |
A |
G |
7: 100,473,432 (GRCm39) |
N107S |
probably damaging |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,793,829 (GRCm39) |
|
probably null |
Het |
Fscn3 |
C |
T |
6: 28,428,091 (GRCm39) |
T26I |
possibly damaging |
Het |
Glt8d2 |
C |
A |
10: 82,488,571 (GRCm39) |
A300S |
probably benign |
Het |
Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
Lipk |
A |
G |
19: 34,017,829 (GRCm39) |
N289S |
probably damaging |
Het |
Lyg1 |
G |
T |
1: 37,989,759 (GRCm39) |
R43S |
probably damaging |
Het |
Marchf6 |
A |
G |
15: 31,465,405 (GRCm39) |
L833P |
probably benign |
Het |
Mc4r |
T |
A |
18: 66,992,892 (GRCm39) |
N74Y |
probably damaging |
Het |
Med17 |
G |
A |
9: 15,175,062 (GRCm39) |
|
probably benign |
Het |
Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
Ndst4 |
A |
T |
3: 125,355,154 (GRCm39) |
H354L |
possibly damaging |
Het |
Or2t26 |
T |
C |
11: 49,039,642 (GRCm39) |
L186P |
probably damaging |
Het |
Or4c15 |
A |
G |
2: 88,759,757 (GRCm39) |
W301R |
probably benign |
Het |
Or4p22 |
C |
A |
2: 88,317,787 (GRCm39) |
T237N |
probably damaging |
Het |
Otof |
T |
A |
5: 30,534,215 (GRCm39) |
K1397* |
probably null |
Het |
Rangap1 |
C |
A |
15: 81,594,661 (GRCm39) |
E389D |
probably benign |
Het |
Rbfox2 |
A |
G |
15: 76,983,451 (GRCm39) |
I270T |
probably damaging |
Het |
Rnf217 |
G |
T |
10: 31,410,728 (GRCm39) |
C322* |
probably null |
Het |
Sbk1 |
A |
G |
7: 125,889,183 (GRCm39) |
T50A |
probably benign |
Het |
Shmt1 |
T |
C |
11: 60,688,402 (GRCm39) |
T248A |
probably damaging |
Het |
Smim29 |
G |
A |
17: 27,785,043 (GRCm39) |
|
probably benign |
Het |
Sox30 |
C |
T |
11: 45,875,619 (GRCm39) |
T457I |
probably damaging |
Het |
Syncrip |
A |
T |
9: 88,361,738 (GRCm39) |
|
probably benign |
Het |
Tars3 |
G |
A |
7: 65,338,700 (GRCm39) |
|
probably null |
Het |
Tdrd12 |
T |
C |
7: 35,204,405 (GRCm39) |
E235G |
probably benign |
Het |
Tmem82 |
A |
T |
4: 141,344,945 (GRCm39) |
|
probably null |
Het |
Tro |
T |
C |
X: 149,437,230 (GRCm39) |
T476A |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,561,363 (GRCm39) |
P27302S |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,571,610 (GRCm39) |
V26428I |
probably damaging |
Het |
Usp53 |
T |
C |
3: 122,742,968 (GRCm39) |
E656G |
probably benign |
Het |
Vmn2r100 |
A |
G |
17: 19,752,272 (GRCm39) |
R772G |
probably damaging |
Het |
Xkr5 |
T |
C |
8: 18,984,474 (GRCm39) |
E190G |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,651,095 (GRCm39) |
|
probably benign |
Het |
Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
Zp2 |
A |
T |
7: 119,741,057 (GRCm39) |
S156T |
possibly damaging |
Het |
Zswim5 |
A |
G |
4: 116,819,755 (GRCm39) |
T387A |
probably benign |
Het |
|
Other mutations in Stox2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02234:Stox2
|
APN |
8 |
47,646,647 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02331:Stox2
|
APN |
8 |
47,644,979 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02399:Stox2
|
APN |
8 |
47,639,573 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03091:Stox2
|
APN |
8 |
47,646,222 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03143:Stox2
|
APN |
8 |
47,646,839 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL03307:Stox2
|
APN |
8 |
47,647,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Stox2
|
UTSW |
8 |
47,656,317 (GRCm39) |
splice site |
probably benign |
|
R0313:Stox2
|
UTSW |
8 |
47,645,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R0382:Stox2
|
UTSW |
8 |
47,656,319 (GRCm39) |
splice site |
probably benign |
|
R0513:Stox2
|
UTSW |
8 |
47,646,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R0539:Stox2
|
UTSW |
8 |
47,647,070 (GRCm39) |
missense |
probably damaging |
0.97 |
R0920:Stox2
|
UTSW |
8 |
47,646,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R1764:Stox2
|
UTSW |
8 |
47,647,051 (GRCm39) |
nonsense |
probably null |
|
R1923:Stox2
|
UTSW |
8 |
47,646,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R2311:Stox2
|
UTSW |
8 |
47,645,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R3196:Stox2
|
UTSW |
8 |
47,645,865 (GRCm39) |
missense |
probably damaging |
0.99 |
R4300:Stox2
|
UTSW |
8 |
47,647,027 (GRCm39) |
nonsense |
probably null |
|
R4534:Stox2
|
UTSW |
8 |
47,646,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Stox2
|
UTSW |
8 |
47,645,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R4601:Stox2
|
UTSW |
8 |
47,645,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R4602:Stox2
|
UTSW |
8 |
47,645,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R4603:Stox2
|
UTSW |
8 |
47,645,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R4610:Stox2
|
UTSW |
8 |
47,645,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R4624:Stox2
|
UTSW |
8 |
47,646,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R4672:Stox2
|
UTSW |
8 |
47,645,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R4888:Stox2
|
UTSW |
8 |
47,656,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R4944:Stox2
|
UTSW |
8 |
47,866,300 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5331:Stox2
|
UTSW |
8 |
47,866,662 (GRCm39) |
utr 5 prime |
probably benign |
|
R5349:Stox2
|
UTSW |
8 |
47,740,951 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5367:Stox2
|
UTSW |
8 |
47,656,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R5471:Stox2
|
UTSW |
8 |
47,646,548 (GRCm39) |
missense |
probably damaging |
0.96 |
R5561:Stox2
|
UTSW |
8 |
47,646,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R5630:Stox2
|
UTSW |
8 |
47,644,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R5719:Stox2
|
UTSW |
8 |
47,866,172 (GRCm39) |
nonsense |
probably null |
|
R5733:Stox2
|
UTSW |
8 |
47,866,172 (GRCm39) |
nonsense |
probably null |
|
R5996:Stox2
|
UTSW |
8 |
47,656,182 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6170:Stox2
|
UTSW |
8 |
47,645,055 (GRCm39) |
missense |
probably benign |
0.02 |
R6458:Stox2
|
UTSW |
8 |
47,645,079 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6786:Stox2
|
UTSW |
8 |
47,639,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R6815:Stox2
|
UTSW |
8 |
47,646,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R6951:Stox2
|
UTSW |
8 |
47,656,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R7193:Stox2
|
UTSW |
8 |
47,639,489 (GRCm39) |
missense |
probably benign |
|
R7330:Stox2
|
UTSW |
8 |
47,645,271 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7552:Stox2
|
UTSW |
8 |
47,656,154 (GRCm39) |
critical splice donor site |
probably null |
|
R8001:Stox2
|
UTSW |
8 |
47,639,512 (GRCm39) |
missense |
probably benign |
0.06 |
R8266:Stox2
|
UTSW |
8 |
47,645,060 (GRCm39) |
missense |
probably damaging |
0.99 |
R8506:Stox2
|
UTSW |
8 |
47,645,108 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8935:Stox2
|
UTSW |
8 |
47,645,895 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9261:Stox2
|
UTSW |
8 |
47,645,441 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9325:Stox2
|
UTSW |
8 |
47,647,095 (GRCm39) |
missense |
probably benign |
0.45 |
R9505:Stox2
|
UTSW |
8 |
47,645,304 (GRCm39) |
missense |
probably benign |
0.28 |
X0027:Stox2
|
UTSW |
8 |
47,646,875 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1177:Stox2
|
UTSW |
8 |
47,647,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCCAAGTGCCCTAAAGTCCC -3'
(R):5'- CGATGCCTGGTTAAGATGGAG -3'
Sequencing Primer
(F):5'- TCACCCAAGCAGCGGATCTG -3'
(R):5'- AGAAGTTTCTGCAGATCGCGC -3'
|
Posted On |
2015-01-23 |